Feature Channels: Genetics

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College of American Pathologists applauds U.S. Supreme Court ruling on gene patents.

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Jeffrey Rosenfeld, Ph.D., at the UMDNJ-New Jersey Medical School published research in March on gene patents and an op-ed in the Washington Post arguing against the the patenting of human genes.

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Newly discovered genetic variations may help predict breast cancer risk in women who receive preventive breast cancer therapy with the selective estrogen receptor modulator drugs tamoxifen and raloxifene, a Mayo Clinic-led study has found. The study is published in the journal Cancer Discovery.

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Researchers at Case Western Reserve University have found that a single gene poses a double threat to disease: Not only does it inhibit the growth and spread of breast tumors, but it also makes hearts healthier.

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Many plants are self-fertilizing, meaning they act as both mother and father to their own seeds. This strategy – known as selfing – guarantees reproduction but, over time, leads to reduced diversity and the accumulation of harmful mutations. A new study published in the scientific journal Nature Genetics shows that these negative consequences are apparent across a selfing plant’s genome, and can arise more rapidly than previously thought.

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Genetic research published June 12 in Nature by scientists from the University of Delaware and Woods Hole Oceanographic Institution reveals active bacteria, fungi and other microbes living in 5 million-year-old ocean sediment.

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First study to describe clinical presentation of Phelan-McDermid Syndrome will help guide future research and clinical care.

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Changes in an epigenetic mechanism that turns expression of genes on and off may be as important as genetic alterations in causing pediatric acute lymphoblastic leukemia (ALL), according to a study led by scientists at St. Jude Children’s Research Hospital and published in the June 10 online edition of the Journal of Clinical Investigation.

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Fred Hutchinson Cancer Research Center scientists have, for the first time, mapped a young gene’s short, dramatic evolutionary journey to becoming essential, or indispensable. In a study published online June 6 in Science, the researchers detail one gene’s rapid switch to a new and essential function in the fruit fly, challenging the long-held belief that only ancient genes are important.

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University of Michigan researchers have determined how a gene that is known to be defective in Down syndrome is regulated and how its dysregulation may lead to neurological defects, providing insights into potential therapeutic approaches to an aspect of the syndrome.

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A newfound genetic marker promises to better predict warfarin dose in African-Americans, according to a study published online today in The Lancet.

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In the first GWAS to focus on warfarin dose requirement in African-Americans, researchers have identified a common genetic variation that can help physicians estimate the correct dose of the widely used blood-thinning drug warfarin.

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Researchers at the University of Michigan have evidence that a single gene controls both halves of nerve cells, and their research demonstrates the need to consider that design in the development of new treatments for regeneration of nerve cells.

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Research from Thomas Jefferson University is laying the foundation for a genetic test to accurately identify hip dysplasia in newborns so that early intervention can be initiated to promote normal development. Researchers studied four generations of a Utah family affected by developmental dysplasia of the hip (DDH) in most generations to determine the genetics of DDH. Their findings are currently available in the Journal of Bone and Mineralizing Research (JBMR) online.

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In the gonads of animals, genome parasites such as transposons pose a serious threat to evolutionary fitness. With their ability to bounce around in the genome, they often cause dangerous mutations. To protect genomic integrity, animals evolved a sophisticated mechanism – the so called piRNA pathway – to silence the deleterious transposons. Not much is known about the molecular processes and the involved factors that constitute the piRNA pathway. Researchers at the Institute of Molecular Biotechnology (IMBA) of the Austrian Academy of Sciences (ÖAW) in Vienna have now identified ~50 genes, that play important roles in the piRNA pathway of the fruitfly Drosophila melanogaster.

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In a pair of distinct but complementary papers, researchers at the University of California, San Diego School of Medicine and colleagues illuminate the functional importance of a relatively new class of RNA molecules. The work, published online this week in the journal Nature, suggests modulation of “enhancer-directed RNAs” or “eRNAs” could provide a new way to alter gene expression in living cells, perhaps affecting the development or pathology of many diseases.

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Scientists at the National Institutes of Health, and their colleagues, have discovered that a gene called BACH2 may play a central role in the development of diverse allergic and autoimmune diseases, such as multiple sclerosis, asthma, Crohn's disease, celiac disease, and type-1 diabetes.

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A multi-national team of researchers has identified genetic markers that predict educational attainment by pooling data from more than 125,000 individuals in the United States, Australia, and 13 western European countries.

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Researchers have developed a new gene therapy to thwart a potential influenza pandemic. They demonstrated that a single dose of an adeno-associated virus expressing a broadly neutralizing flu antibody into the noses of animal models gives them complete protection and substantial reductions in flu replication when exposed to lethal strains of H5N1 and H1N1 flu virus. These were isolated from samples associated from historic human pandemics – the infamous 1918 flu pandemic and another from 2009.

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In one of the first successful attempts at genetically engineering mosquitoes, HHMI researchers have altered the way the insects respond to odors, including the smell of humans and the insect repellant DEET. The research not only demonstrates that mosquitoes can be genetically altered using the latest research techniques, but paves the way to understanding why the insect is so attracted to humans, and how to block that attraction.

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Experimental genetic techniques may one day provide plastic and reconstructive surgeons with an invaluable tool—the ability to promote growth of the patient's own tissues for reconstructive surgery. A review of recent progress toward developing effective gene therapies for use in "regenerative surgery" appears in the June issue of Plastic and Reconstructive Surgery®, the official medical journal of the American Society of Plastic Surgeons (ASPS).

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Using a novel method of analyzing genetic variations in families, researchers at Johns Hopkins have found that individually harmless genetic variations affecting related biochemical processes may team up to increase the risk of schizophrenia. They say their findings, reported May 28 in Translational Psychiatry, bring some clarity to the murky relationship between genetics and schizophrenia, and may lead to a genetic test that can predict which medications will be effective for individual patients.

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Two mutations central to the development of infantile myofibromatosis (IM)—a disorder characterized by multiple tumors involving the skin, bone, and soft tissue—may provide new therapeutic targets, according to researchers from the Icahn School of Medicine at Mount Sinai.

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Mayo Clinic researchers have used next generation genomic analysis to determine that some of the more aggressive prostate cancer tumors have similar genetic origins, which may help in predicting cancer progression. The findings appear online today in the journal Cancer Research.

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Q&A with Dr. Andrea Farkas Patenaude.

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A pioneering genomics technique developed at Cornell University to improve corn can now be used to improve the quality of milk and meat, according to research published May 17 in the online journal PLOS ONE.

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Johns Hopkins researchers say they have discovered specific chemical alterations in two genes that, when present during pregnancy, reliably predict whether a woman will develop postpartum depression.

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A new measure of the heterogeneity – the variety of genetic mutations – of cells within a tumor appears to predict treatment outcomes of patients with the most common type of head and neck cancer.

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A University of Iowa researcher and his colleague have conducted a study that reveals important and useful insights into how and why developmental genes often take inputs from two independent “morphogen concentration gradients.”

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Scientists at the Texas Biomedical Research Institute in San Antonio have identified four genes in baboons that influence levels of “bad” cholesterol. This discovery could lead to the development of new drugs to reduce the risk of heart disease.

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Vanderbilt phylogeneticists examined the reasons why large-scale tree-of-life studies are producing contradictory results and have proposed a suite of novel techniques to resolve the conflicts.

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The tiniest bones in the human body – the bones of the middle ear – could provide huge clues about our evolution and the development of modern-day humans, according to a study by a team of researchers that include a Texas A&M University anthropologist.

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A new study in Nature Genetics looking at the genomes of more than 13,000 men identified four new genetic variants associated with an increased risk of testicular cancer, the most commonly diagnosed type in young men today.

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The newly sequenced genome of the carnivorous bladderwort contradicts the notion that vast quantities of noncoding 'junk' DNA are crucial for complex life.

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While the genes provided by the father arrive at fertilization pre-programmed to the state needed by the embryo, the genes provided by the mother are in a different state and must be reprogrammed to match.

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A team led by scientists at The Scripps Research Institute has found how to boost or inhibit a gene-silencing mechanism that normally serves as a major controller of cells’ activities. The discovery could lead to a powerful new class of drugs against viral infections, cancers and other diseases.

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A large, multi-institutional research team involved in the NIH Epigenome Roadmap Project has published a sweeping analysis in the current issue of the journal Cell of how genes are turned on and off to direct early human development.

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Scientists have long known that control mechanisms known collectively as “epigenetics” play a critical role in human development, but they did not know precisely how alterations in this extra layer of biochemical instructions in DNA contribute to development.

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Wake Forest Baptist research looks at gene expression profiling in breast cancer.

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In a groundbreaking move that provides new insight into avian evolution, biology and conservation, researchers at Texas A&M University have successfully sequenced the complete genome of a Scarlet macaw for the first time.

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Kennedy Krieger researchers pinpoint genetic cause of rare disease and common birthmark.

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Mutations in genes that regulate cellular metabolism found in families with ataxia, dementia and reproductive failure.

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A new genomic test for prostate cancer can help predict whether men are more likely to harbor an aggressive form of the disease, according to a new UC San Francisco study. The test, which improves risk assessment when patients are first diagnosed, can also aid in determining which men are suitable for active surveillance – a way of managing the disease without direct treatment.

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Two genome-wide association studies and a subsequent meta-analysis have found that certain genetic variations are associated with susceptibility to Helicobacter pylori, a bacteria that is a major cause of gastritis and stomach ulcers and is linked to stomach cancer, findings that may help explain some of the observed variation in individual risk for H pylori infection.

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Scientists at the Salk Institute for Biological Studies have identified a protein that drives the formation of pituitary tumors in Cushing's disease, a development that may give clinicians a therapeutic target to treat this potentially life-threatening disorder.

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An international group of investigators, led by researchers at Thomas Jefferson University’s Kimmel Cancer Center, have solved the mystery of why a substantial percentage of castrate-resistant metastatic prostate cancer cells contain abnormally high levels of the pro-growth protein Stat5.

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Scientists’ picture of how a gene strongly linked to Alzheimer’s disease harms the brain may have to be revised, researchers at Washington University School of Medicine in St. Louis have found.

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University of Washington engineers and NanoFacture, a Bellevue, Wash., company, have created a device that can extract human DNA from fluid samples in a simpler, more efficient and environmentally friendly way than conventional methods.